ClinVar Miner

List of variants reported as likely pathogenic for PMM2-CDG by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.66+1G>T rs937726878

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